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Case Reports
. 2018 Nov 21:2018:5189062.
doi: 10.1155/2018/5189062. eCollection 2018.

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

Corina Ramona Nicolescu  1 , Laura Kasongo  1 , Léon Rausin  2
Affiliations
Case Reports

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

Corina Ramona Nicolescu et al. Case Rep Pediatr. .

Abstract

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.

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Figures

Figure 1
Figure 1
Typical dysmorphic facial features.
Figure 2
Figure 2
Symmetrical deformity of proximal interphalangeal joints of both hands.
Figure 3
Figure 3
Feet abnormalities with short toes.
Figure 4
Figure 4
(a) Cone-shaped epiphyses of the middle phalanges of the second digit of both hands and (b) magnification of the cone-shaped epiphyses.
Figure 5
Figure 5
Cone-shaped epiphyses with shortness of the toes.
See this image and copyright information in PMC

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